眼皮膚白皮症 OCA
WordNet
- the congenital absence of pigmentation in the eyes and skin and hair
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2018/01/20 17:21:26」(JST)
[Wiki en表示]
| Oculocutaneous albinism |
| Classification and external resources |
| Specialty |
endocrinology |
| ICD-10 |
E70.3 |
| ICD-9-CM |
270.2 |
| OMIM |
203100 203200 203290 606574 |
| MeSH |
D016115 |
| GeneReviews |
- Oculocutaneous Albinism Type 1
- Oculocutaneous Albinism Type 2
- Oculocutaneous Albinism Type 4
|
|
[edit on Wikidata]
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Oculocutaneous albinism (OCA) is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and according to some definitions, the hair.[1] Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism.[2] OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.[3] Four types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders.[4][5]:864
Contents
- 1 Types
- 2 See also
- 3 References
- 4 External links
Types
| Name |
OMIM |
Gene |
Description |
| OCA1 |
203100
606952 |
TYR |
OCA1 is caused by mutations of the tyrosinase gene, and can occur in two variations. The first is OCA1a, and means that the organism cannot synthesize melanin whatsoever.[6] The hair is usually white (often translucent) and the skin very pale. Vision usually ranges from 20/200 to 20/400. The second is OCA1b, which has several subtypes itself.[7] Some individuals with OCA1b can tan and also develop pigment in the hair.[8] One subtype of OCA1b is called OCA1b TS (temperature sensitive), where the tyrosinase can only function below a certain temperature, which causes the body hair in cooler body regions to develop pigment (i.e. get darker). (An equivalent mutation produces the coat pattern in Siamese cats.[9]) Another variant of OCA1b, called Albinism, yellow mutant type is more common among the Amish than in other populations, and results in blonde hair and the eventual development of skin pigmentation during infancy, though at birth is difficult to distinguish from other types.[7][10] About 1 in 40,000 people have some form of OCA1.[11] |
| OCA2 |
203200 |
OCA2 |
The most common type of albinism, is caused by mutation of the P gene. People with OCA2 generally have more pigment and better vision than those with OCA1, but cannot tan like some with OCA1b. A little pigment can develop in freckles or moles.[8] People with OCA2 usually have fair skin but often not as pale as OCA1, and pale blonde to golden, strawberry blonde, or even brown hair, and most commonly blue eyes. Affected people of African descent usually have a different phenotype (appearance): yellow hair, pale skin, and blue, gray or hazel eyes. About 1 in 15,000 people have OCA2.[12][11] The gene MC1R doesn't cause OCA2, but does affect its presentation.[1] |
| OCA3 |
203290 |
TYRP1 |
Has only been partially researched and documented. It is caused by mutation of the tyrosinase-related protein-1 (Tyrp1) gene. Cases have been reported in Africa and New Guinea. Affected individuals typically have red hair, reddish-brown skin and blue or gray eyes. Variants may include rufous oculocutaneous albinism (ROCA or xanthism). The incidence rate of OCA3 is unknown.[13][11] |
| OCA4 |
606574 |
SLC45A2 |
Is very rare outside Japan, where OCA4 accounts for 24% of albinism cases. OCA4 can only be distinguished from OCA2 through genetic testing, and is caused by mutation of this membrane-associated transporter protein (MATP) gene.[14][11] Several German patients were identified in 2004.[15] |
| OCA5 |
615312 |
|
OCA5 waas identified in a Pakistani family with "golden-colored hair, white skin, nystagmus, photophobia, foveal hypoplasia, and impaired visual acuity, regardless of their sex and age". Genetic analysis localized the defect to human chromosome region 4q24, but failed to identify a candidate gene.[16][17] |
| OCA6 |
113750 |
SLC24A5 |
One of the rarest forms of OCA, OCA6 was detected in Chinese individuals by is not thought to be limited to this ethnicity. It is heterogeneous in its effect of hair color, and results from mutations in the SLC24A5 gene, a membrane transported that plays a role in pigmentation in a range of vertebrate species.[17][18] |
| OCA7 |
615179 |
C10orf11 |
OCA7 was originally characterized in a family from the Faroe Islands, but was subsequently identified in a Lithuanian patent. It is characterized by lighter pigmentation, and significant effects on the eye, including decreased visual acuity and misrouting of neuronal tracks through the optic chiasm. It is due to mutation of a gene of unknown function, C10orf11 (11th uncharacterized open reading frame on chromosome 10, OMIM: 614537).[17][19] |
See also
- Piebaldism
- List of cutaneous conditions
- List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer
References
- ^ a b "Oculocutaneous albinism - Genetics Home Reference".
- ^ http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism
- ^ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=55
- ^ Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet Journal of Rare Diseases. 2: 43. doi:10.1186/1750-1172-2-43. PMC 2211462 . PMID 17980020.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ OCA1A page at Online Mendelian Inheritance in Man Database, Johns Hopkins University
- ^ a b OCA1B page at Online Mendelian Inheritance in Man Database, Johns Hopkins University
- ^ a b "Facts about Albinism" (archived), by Dr. Richard King et al., 2009
- ^ Giebel LB, Tripathi RK, King RA, Spritz RA (March 1991). "A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse". The Journal of Clinical Investigation. 87 (3): 1119–22. doi:10.1172/JCI115075. PMC 329910 . PMID 1900309.
- ^ "Ocular Manifestations of Albinism", by Dr. Mohammed O. Peracha, at eMedicine, 13 September 2005; retrieved 31 March 2007
- ^ a b c d "Albinism", by Dr. Raymond E. Boissy, Dr. James J. Nordlund, et al., at eMedicine, 22 August 2005; retrieved 31 March 2007
- ^ OCA2 page at Online Mendelian Inheritance in Man Database, Johns Hopkins University
- ^ OCA3 page at Online Mendelian Inheritance in Man Database, Johns Hopkins University
- ^ OCA4 page at Online Mendelian Inheritance in Man Database, Johns Hopkins University
- ^ Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B (February 2004). "Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4". Human Mutation. 23 (2): 106–10. doi:10.1002/humu.10311. PMID 14722913.
- ^ OCA5 page at Online Mendelian Inheritance in Man Database, Johns Hopkins University
- ^ a b c Montoliu L, Grønskov K, Wei A, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed Z, Rosenberg T, Li W (January 2014). "Increasing the complexity: new genes and new types of albinism". Pigment Cell & Melanoma Research. 27 (1): 11–18. doi:10.1111/pcmr.12167. PMID 24066960.
- ^ SHEP4 page at Online Mendelian Inheritance in Man Database, Johns Hopkins University
- ^ OCA7 page at Online Mendelian Inheritance in Man Database, Johns Hopkins University
External links
- Oculocutaneous albinism information at RareDiseases.org
|
Inborn error of amino acid metabolism (E70–E72, 270)
|
| K→acetyl-CoA |
| Lysine/straight chain |
- Glutaric acidemia type 1
- type 2
- Hyperlysinemia
- Pipecolic acidemia
- Saccharopinuria
|
| Leucine |
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- 3-Methylcrotonyl-CoA carboxylase deficiency
- 3-Methylglutaconic aciduria 1
- Isovaleric acidemia
- Maple syrup urine disease
|
| Tryptophan |
|
|
| G |
| G→pyruvate→citrate |
| Glycine |
- D-Glyceric acidemia
- Glutathione synthetase deficiency
- Sarcosinemia
- Glycine→Creatine: GAMT deficiency
- Glycine encephalopathy
|
|
G→glutamate→
α-ketoglutarate |
| Histidine |
- Carnosinemia
- Histidinemia
- Urocanic aciduria
|
| Proline |
- Hyperprolinemia
- Prolidase deficiency
|
| Glutamate/glutamine |
|
|
G→propionyl-CoA→
succinyl-CoA |
| Valine |
- Hypervalinemia
- Isobutyryl-CoA dehydrogenase deficiency
- Maple syrup urine disease
|
| Isoleucine |
- 2-Methylbutyryl-CoA dehydrogenase deficiency
- Beta-ketothiolase deficiency
- Maple syrup urine disease
|
| Methionine |
- Cystathioninuria
- Homocystinuria
- Hypermethioninemia
|
| General BC/OA |
- Methylmalonic acidemia
- Methylmalonyl-CoA mutase deficiency
- Propionic acidemia
|
|
| G→fumarate |
| Phenylalanine/tyrosine |
| Phenylketonuria |
- 6-Pyruvoyltetrahydropterin synthase deficiency
- Tetrahydrobiopterin deficiency
|
| Tyrosinemia |
- Alkaptonuria/Ochronosis
- Type I tyrosinemia
- Type II tyrosinemia
- Type III tyrosinemia/Hawkinsinuria
|
| Tyrosine→Melanin |
- Albinism: Ocular albinism (1)
- Oculocutaneous albinism (Hermansky–Pudlak syndrome)
- Waardenburg syndrome
|
| Tyrosine→Norepinephrine |
- Dopamine beta hydroxylase deficiency
- reverse: Brunner syndrome
|
|
|
| G→oxaloacetate |
Urea cycle/Hyperammonemia
(arginine
|
- Argininemia
- Argininosuccinic aciduria
- Carbamoyl phosphate synthetase I deficiency
- Citrullinemia
- N-Acetylglutamate synthase deficiency
- Ornithine transcarbamylase deficiency/translocase deficiency
|
|
|
Transport/
IE of RTT |
- Solute carrier family: Cystinuria
- Hartnup disease
- Iminoglycinuria
- Lysinuric protein intolerance
- Fanconi syndrome: Oculocerebrorenal syndrome
- Cystinosis
|
| Other |
- 2-Hydroxyglutaric aciduria
- Aminoacylase 1 deficiency
- Ethylmalonic encephalopathy
- Fumarase deficiency
- Trimethylaminuria
|
|
Pigmentation disorders/Dyschromia (L80–L81, 709.0)
|
Hypo-/
leucism |
Loss of
melanocytes |
| Vitiligo |
- Quadrichrome vitiligo
- Vitiligo ponctué
|
| Syndromic |
- Alezzandrini syndrome
- Vogt–Koyanagi–Harada syndrome
|
Melanocyte
development |
- Piebaldism
- Waardenburg syndrome
- Tietz syndrome
|
|
Loss of melanin/
amelanism |
| Albinism |
- Oculocutaneous albinism
- Ocular albinism
|
Melanosome
transfer |
- Hermansky–Pudlak syndrome
- Chédiak–Higashi syndrome
- Griscelli syndrome
- Elejalde syndrome
- Griscelli syndrome type 2
- Griscelli syndrome type 3
|
| Other |
- Cross syndrome
- ABCD syndrome
- Albinism–deafness syndrome
- Idiopathic guttate hypomelanosis
- Phylloid hypomelanosis
- Progressive macular hypomelanosis
|
|
Leukoderma w/o
hypomelanosis |
- Vasospastic macule
- Woronoff's ring
- Nevus anemicus
|
| Ungrouped |
- Nevus depigmentosus
- Postinflammatory hypopigmentation
- Pityriasis alba
- Vagabond's leukomelanoderma
- Yemenite deaf-blind hypopigmentation syndrome
- Wende–Bauckus syndrome
|
|
| Hyper- |
Melanin/
Melanosis/
Melanism |
| Reticulated |
- Dermatopathia pigmentosa reticularis
- Pigmentatio reticularis faciei et colli
- Reticulate acropigmentation of Kitamura
- Reticular pigmented anomaly of the flexures
- Naegeli–Franceschetti–Jadassohn syndrome
- Dyskeratosis congenita
- X-linked reticulate pigmentary disorder
- Galli–Galli disease
- Revesz syndrome
|
Diffuse/
circumscribed |
- Lentigo/Lentiginosis: Lentigo simplex
- Liver spot
- Centrofacial lentiginosis
- Generalized lentiginosis
- Inherited patterned lentiginosis in black persons
- Ink spot lentigo
- Lentigo maligna
- Mucosal lentigines
- Partial unilateral lentiginosis
- PUVA lentigines
- Melasma
- Erythema dyschromicum perstans
- Lichen planus pigmentosus
- Café au lait spot
- Poikiloderma (Poikiloderma of Civatte
- Poikiloderma vasculare atrophicans)
- Riehl melanosis
|
| Linear |
- Incontinentia pigmenti
- Scratch dermatitis
- Shiitake mushroom dermatitis
|
Other/
ungrouped |
- Acanthosis nigricans
- Freckle
- Familial progressive hyperpigmentation
- Pallister–Killian syndrome
- Periorbital hyperpigmentation
- Photoleukomelanodermatitis of Kobori
- Postinflammatory hyperpigmentation
- Transient neonatal pustular melanosis
|
|
Other
pigments |
| Iron |
- Hemochromatosis
- Iron metallic discoloration
- Pigmented purpuric dermatosis
- Schamberg disease
- Majocchi's disease
- Gougerot–Blum syndrome
- Doucas and Kapetanakis pigmented purpura/Eczematid-like purpura of Doucas and Kapetanakis
- Lichen aureus
- Angioma serpiginosum
- Hemosiderin hyperpigmentation
|
Other
metals |
- Argyria
- Chrysiasis
- Arsenic poisoning
- Lead poisoning
- Titanium metallic discoloration
|
| Other |
- Carotenosis
- Tattoo
- Tar melanosis
|
|
|
| Dyschromia |
- Dyschromatosis symmetrica hereditaria
- Dyschromatosis universalis hereditaria
|
| See also |
- Skin color
- Skin whitening
- Tanning (Sunless)
|
UpToDate Contents
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English Journal
- Kumar R, Bansal A, Shukla R, Raj Singh T, Wasudeo Ramteke P, Singh S, Gautam B.
- Journal of biomolecular structure & dynamics. 2019 Aug;37(13)3513-3523.
- Solute carrier family 24 member 5 (SLC24A5) is a gene that is associated with oculocutaneous albinism type 6 (OCA6) disorder and is involved in skin and hair pigmentation. It is involved in the maturation of melanosomes and melanin synthesis. SLC24A5 gene is located in the chromosomal position of 15
- PMID 30204049
- Mitochondrial NCKX5 regulates melanosomal biogenesis and pigment production.
- Zhang Z, Gong J, Sviderskaya EV, Wei A, Li W.
- Journal of cell science. 2019 Jul;132(14).
- Oculocutaneous albinism (OCA) is a heterogeneous and autosomal recessive hypopigmentation disorder, which is caused by mutations of genes involved in pigment biosynthesis or melanosome biogenesis. We have previously identified (also known as ) as a causative gene for OCA type 6 (OCA6). However, the
- PMID 31201282
- Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism.
- Gironi LC, Colombo E, Brusco A, Grosso E, Naretto VG, Guala A, Di Gregorio E, Zonta A, Zottarelli F, Pasini B, Savoia P.
- Medicina (Kaunas, Lithuania). 2019 Jul;55(7).
- Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including Waardenburg syndromes, oculocutaneous albinism, Ti
- PMID 31284637
Japanese Journal
- A nonsense nucleotide substitution in the oculocutaneous albinism Ⅱ gene underlies the original pink-eyed dilution allele (Oca2p) in mice
- SHOJI Haruka,KINIWA Yukiko,OKUYAMA Ryuhei [他]
- Experimental animals 64(2), 171-179, 2015-04
- NAID 40020434887
- Development of a novel pink-eyed dilution mouse model showing progressive darkening of the eyes and coat hair with aging
- ISHIKAWA Akira,SUGIYAMA Makoto,HONDO Eiichi [他],KINOSHITA Keiji,YAMAGISHI Yuki
- Experimental Animals 64(2), 207-220, 2015
- … Oca2p-cas (oculocutaneous albinism II; …
- NAID 130005069866
- A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2p) in mice
- SHOJI Haruka,KINIWA Yukiko,OKUYAMA Ryuhei,YANG Mu,HIGUCHI Keiichi,MORI Masayuki
- Experimental Animals 64(2), 171-179, 2015
- … The oculocutaneous albinism II (Oca2) gene has previously been identified as the p gene. … Our data also indicate that the NCT mouse can be used not only as a cataract model, but also as a model for human type II oculocutaneous albinism. …
- NAID 130005069859
Related Links
- Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure ...
- The word “albinism” refers to a group of inherited conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited altered genes that do not make the usual amounts of a pigment called ...
Related Pictures
★リンクテーブル★
[★]
- 英
- oculocutaneous albinism OCA
- 同
- 全身性白皮症 total albinism、先天性白皮症、先天性白斑症 congenital albinism、眼皮膚白子症
- 関
- 色素異常症
| ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1A
|
11q14-q21
|
http://omim.org/entry/203100
|
| ALBINISM, OCULOCUTANEOUS, TYPE IB; OCA1B
|
11q14-q21
|
http://omim.org/entry/606952
|
| ALBINISM, OCULOCUTANEOUS, TYPE II; OCA2
|
16q24.3, 15q11.2-q12
|
http://omim.org/entry/203200
|
| ALBINISM, OCULOCUTANEOUS, TYPE III; OCA3
|
9p23
|
http://omim.org/entry/203290
|
| ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4
|
5p13.3
|
http://omim.org/entry/606574
|
[★]
- 関
- 眼皮膚白皮症 oculocutaneous albinism, OCA
- 眼皮膚白皮症の病型の一つで、チロシナーゼが発症に関連している場合、OCA1型と定義されている。そのうち特にチロシナーゼ活性が全くない場合はOCA1A型(チロシナーゼ陰性型)と呼ばれる。
[★]
- 英
- oculocutaneous albinism
- 関
- 眼皮膚白皮症
[★]